Variant report

Variant	esv1804892
Chromosome Location	chr8:120120429-120161140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
2	chr8:120147555..120150630-chr8:120219231..120222097,3	MCF-7	breast:
3	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
4	chr8:119724012..119726064-chr8:120134781..120136328,2	MCF-7	breast:
5	chr8:120124264..120124843-chr8:120145286..120146057,2	MCF-7	breast:
6	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
7	chr8:120119326..120121225-chr8:120220294..120222279,2	MCF-7	breast:
8	chr8:120124264..120124843-chr8:120145286..120146057,2	MCF-7	breast:
9	chr8:120123252..120128065-chr8:120218865..120222398,4	MCF-7	breast:
10	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
11	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
12	chr8:120125607..120126448-chr8:124225021..124225816,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 1462 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6469809	chr8:120120429-120120430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193148154	chr8:120120441-120120442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533724986	chr8:120120442-120120443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184430099	chr8:120120450-120120451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529914153	chr8:120120513-120120514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151231915	chr8:120120542-120120543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563496529	chr8:120120565-120120566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188293687	chr8:120120566-120120567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191595770	chr8:120120587-120120588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557496175	chr8:120120609-120120610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571674038	chr8:120120662-120120663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532524398	chr8:120120663-120120664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546065650	chr8:120120712-120120713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548127342	chr8:120120744-120120745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558189593	chr8:120120764-120120765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576738061	chr8:120120810-120120811	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183881429	chr8:120120835-120120836	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536927716	chr8:120120872-120120873	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188607813	chr8:120120899-120120900	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7825193	chr8:120120901-120120902	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536756376	chr8:120120931-120120932	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558183214	chr8:120120948-120120949	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181643584	chr8:120120962-120120963	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540589283	chr8:120121025-120121026	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569570398	chr8:120121031-120121032	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546977879	chr8:120121032-120121033	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552530150	chr8:120121049-120121050	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2450076	chr8:120121084-120121085	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542098733	chr8:120121102-120121103	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186778589	chr8:120121118-120121119	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530686818	chr8:120121199-120121200	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543958867	chr8:120121206-120121207	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565346710	chr8:120121209-120121210	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529813223	chr8:120121244-120121245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532638669	chr8:120121276-120121277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374091895	chr8:120121285-120121286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13269850	chr8:120121306-120121307	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566060220	chr8:120121338-120121339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs13269610	chr8:120121356-120121357	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190632757	chr8:120121388-120121389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373139317	chr8:120121398-120121399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78943430	chr8:120121410-120121411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377339697	chr8:120121418-120121419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558244488	chr8:120121419-120121420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57794504	chr8:120121426-120121427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77608920	chr8:120121446-120121447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80022451	chr8:120121452-120121453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73327248	chr8:120121472-120121473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139124762	chr8:120121477-120121478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372982379	chr8:120121509-120121510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120115200-120121000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120118800-120120800	Enhancers	Fetal Intestine Small	intestine
3	chr8:120119000-120121000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:120119800-120120600	Enhancers	Small Intestine	intestine
5	chr8:120120000-120120800	Enhancers	Liver	Liver
6	chr8:120120200-120121000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:120120800-120121400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr8:120121000-120121200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:120121000-120121200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:120121200-120124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:120121400-120124800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:120124600-120125000	Enhancers	HMEC	breast
13	chr8:120124600-120125200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:120124600-120129200	Enhancers	NHEK	skin
15	chr8:120124800-120125200	Enhancers	Fetal Intestine Small	intestine
16	chr8:120124800-120126200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:120124800-120126400	Enhancers	Fetal Intestine Large	intestine
18	chr8:120124800-120127200	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:120124800-120127200	Enhancers	Stomach Mucosa	stomach
20	chr8:120125000-120126000	Weak transcription	HMEC	breast
21	chr8:120125200-120125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:120125200-120126400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:120125600-120129200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:120125800-120126400	Enhancers	Small Intestine	intestine
25	chr8:120126000-120127600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr8:120126000-120129400	Enhancers	HMEC	breast
27	chr8:120126200-120127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:120126200-120128600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:120126200-120129200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:120126400-120127000	Enhancers	Fetal Intestine Small	intestine
31	chr8:120126400-120127400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:120126400-120127400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120126400-120127400	Enhancers	Osteobl	bone
34	chr8:120126600-120127200	Enhancers	NHDF-Ad	bronchial
35	chr8:120126600-120127400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120126600-120127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:120127400-120128600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:120127400-120133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:120127400-120133200	Weak transcription	Osteobl	bone
40	chr8:120127600-120128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:120128400-120128800	Enhancers	HUVEC	blood vessel
42	chr8:120128600-120128800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:120128600-120129600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:120128800-120129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:120129200-120129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:120129200-120129800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:120129400-120129600	ZNF genes & repeats	HMEC	breast
48	chr8:120129400-120130400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:120130400-120131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:120130400-120133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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